Tight linkage of creatine kinase (CKMM) to myotonic dystrophy on chromosome 19.
The myotonic dystrophy (DM) gene is localized to the proximal long arm of chromosome 19. There have been reports of tight linkage to a number of chromosome 19 markers, including APOC2 and creatine kinase muscle type (CKMM), but they did not establish orientation of the 2 markers to DM. We screened several large multi-generational DM families for linkage to a series of chromosome 19 markers including CKMM. CKMM is tightly linked to DM in these data with z(theta) = 28.41; theta = 0.01. Analysis of cross-over data indicates CKMM is on the same side and closer to DM than APOC2. Thus, CKMM is a useful probe for carrier detection studies in presymptomatic individuals as well as for prenatal diagnosis.
Yamaoka
L H
LH
Department of Medicine, Duke University Medical Center, Durham, NC 27710.
Pericak-Vance
M A
MA
Speer
M C
MC
Gaskell
P C
PC
Stajich
J
J
Haynes
C
C
Hung
W Y
WY
Laberge
C
C
Thibault
M C
MC
Mathieu
J
J
D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D003402:Creatine Kinase / Q000235:genetics*; D003434:Crossing Over, Genetic / Q000235:genetics; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D009132:Muscles / Q000201:enzymology; D009223:Myotonic Dystrophy / Q000201:enzymology / Q000235:genetics*; D010375:Pedigree
D003402:Creatine Kinase